A14S (p.Ala14Ser) variant of KCNQ5 (Q9NR82)
A14S (p.Ala14Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 6-72622229-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.30
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available